Incidental Mutation 'R7625:Anxa4'
ID 589382
Institutional Source Beutler Lab
Gene Symbol Anxa4
Ensembl Gene ENSMUSG00000029994
Gene Name annexin A4
Synonyms Anx4, Xanx-4, annexin IV, AIV
MMRRC Submission 045719-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # R7625 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 86713822-86770566 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 86714801 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 302 (D302G)
Ref Sequence ENSEMBL: ENSMUSP00000001187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001185] [ENSMUST00000001187] [ENSMUST00000113675] [ENSMUST00000113679] [ENSMUST00000123732] [ENSMUST00000127152] [ENSMUST00000155456] [ENSMUST00000204441]
AlphaFold P97429
Predicted Effect probably benign
Transcript: ENSMUST00000001185
SMART Domains Protein: ENSMUSP00000001185
Gene: ENSMUSG00000001157

DomainStartEndE-ValueType
low complexity region 23 38 N/A INTRINSIC
low complexity region 63 75 N/A INTRINSIC
BTB 106 206 3.76e-11 SMART
BACK 211 298 3.6e-3 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000001187
AA Change: D302G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000001187
Gene: ENSMUSG00000029994
AA Change: D302G

DomainStartEndE-ValueType
ANX 31 83 1.66e-20 SMART
ANX 103 155 6.69e-25 SMART
ANX 187 239 9.84e-23 SMART
ANX 262 314 2.37e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113675
AA Change: D302G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109305
Gene: ENSMUSG00000029994
AA Change: D302G

DomainStartEndE-ValueType
ANX 31 83 1.66e-20 SMART
ANX 103 155 6.69e-25 SMART
ANX 187 239 9.84e-23 SMART
ANX 262 314 2.37e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113679
SMART Domains Protein: ENSMUSP00000109309
Gene: ENSMUSG00000001157

DomainStartEndE-ValueType
low complexity region 23 38 N/A INTRINSIC
low complexity region 63 75 N/A INTRINSIC
Pfam:BTB 96 195 5.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123732
SMART Domains Protein: ENSMUSP00000115346
Gene: ENSMUSG00000029994

DomainStartEndE-ValueType
ANX 31 79 1.6e-13 SMART
ANX 81 133 6.69e-25 SMART
ANX 165 217 9.84e-23 SMART
Pfam:Annexin 227 254 1.5e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127152
SMART Domains Protein: ENSMUSP00000138194
Gene: ENSMUSG00000029994

DomainStartEndE-ValueType
ANX 31 83 1.66e-20 SMART
ANX 103 155 6.69e-25 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000155456
AA Change: D198G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117378
Gene: ENSMUSG00000029994
AA Change: D198G

DomainStartEndE-ValueType
ANX 22 69 1.06e-2 SMART
ANX 83 135 9.84e-23 SMART
ANX 158 210 2.37e-25 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204441
SMART Domains Protein: ENSMUSP00000145421
Gene: ENSMUSG00000029994

DomainStartEndE-ValueType
ANX 31 83 7.1e-23 SMART
ANX 103 155 2.8e-27 SMART
ANX 187 239 4.3e-25 SMART
Pfam:Annexin 249 274 5.4e-6 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Annexin IV (ANX4) belongs to the annexin family of calcium-dependent phospholipid binding proteins. Although their functions are still not clearly defined, several members of the annexin family have been implicated in membrane-related events along exocytotic and endocytotic pathways. ANX4 has 45 to 59% identity with other members of its family and shares a similar size and exon-intron organization. Isolated from human placenta, ANX4 encodes a protein that has possible interactions with ATP, and has in vitro anticoagulant activity and also inhibits phospholipase A2 activity. ANX4 is almost exclusively expressed in epithelial cells. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a gene-trapped allele often display abnormal maternal nurturing behavior. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 T A 8: 111,773,587 (GRCm39) V506E probably damaging Het
Acaa2 G T 18: 74,937,213 (GRCm39) V366F possibly damaging Het
Ago1 G A 4: 126,337,022 (GRCm39) R532C probably benign Het
Ank2 T G 3: 126,846,449 (GRCm39) D182A probably damaging Het
Apoa4 A T 9: 46,154,410 (GRCm39) E337V probably damaging Het
Atf1 A G 15: 100,152,158 (GRCm39) probably null Het
Atp8b3 A C 10: 80,355,980 (GRCm39) V1244G probably benign Het
Cactin CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG 10: 81,157,152 (GRCm39) probably benign Het
Camk2a G A 18: 61,085,412 (GRCm39) V132M probably damaging Het
Cdc40 A T 10: 40,724,048 (GRCm39) Y247N probably benign Het
Chd8 G A 14: 52,474,534 (GRCm39) P166S probably benign Het
Chl1 T A 6: 103,706,086 (GRCm39) S1140R probably damaging Het
Clstn3 G T 6: 124,414,377 (GRCm39) S783* probably null Het
Col6a1 A G 10: 76,549,760 (GRCm39) S562P unknown Het
Cpb2 G A 14: 75,509,989 (GRCm39) V250M possibly damaging Het
Cyp2c38 T A 19: 39,451,368 (GRCm39) Q44L possibly damaging Het
Dgat1 T C 15: 76,387,395 (GRCm39) M325V possibly damaging Het
Dnah11 T A 12: 118,160,377 (GRCm39) M118L probably benign Het
Dpy19l3 T A 7: 35,452,106 (GRCm39) I13L probably benign Het
Enkd1 A G 8: 106,431,265 (GRCm39) probably null Het
Fam241b A G 10: 61,970,479 (GRCm39) probably benign Het
Fhit T A 14: 9,870,177 (GRCm38) probably null Het
Gp6 T C 7: 4,373,173 (GRCm39) E250G probably benign Het
Hmgb1 T C 5: 148,987,150 (GRCm39) E84G probably benign Het
Hscb T A 5: 110,977,012 (GRCm39) I227F probably damaging Het
Hspg2 T A 4: 137,292,249 (GRCm39) L4047Q probably damaging Het
Hsph1 A G 5: 149,541,901 (GRCm39) L775P probably benign Het
Hydin A T 8: 111,268,476 (GRCm39) S2947C probably benign Het
Intu T C 3: 40,652,029 (GRCm39) S829P probably benign Het
Kcnn3 C A 3: 89,516,977 (GRCm39) T462K probably damaging Het
Kndc1 G A 7: 139,517,930 (GRCm39) C1622Y possibly damaging Het
Lifr T C 15: 7,198,723 (GRCm39) Y318H probably damaging Het
Mier2 A G 10: 79,378,543 (GRCm39) S332P probably damaging Het
Mindy4 T C 6: 55,253,598 (GRCm39) I489T possibly damaging Het
Mmp8 A T 9: 7,566,218 (GRCm39) Q358L probably benign Het
Ms4a4a T A 19: 11,367,728 (GRCm39) probably null Het
Nav1 G C 1: 135,395,483 (GRCm39) S962C probably damaging Het
Nfe2l1 G A 11: 96,710,271 (GRCm39) R653C probably damaging Het
Nherf4 A T 9: 44,161,594 (GRCm39) I95N probably damaging Het
Nod2 A T 8: 89,391,906 (GRCm39) I738F probably damaging Het
Nrf1 G A 6: 30,116,230 (GRCm39) V301I probably benign Het
Oog1 T C 12: 87,655,082 (GRCm39) F410S probably benign Het
Or52a33 A G 7: 103,289,165 (GRCm39) Y61H probably damaging Het
Or6k4 G A 1: 173,964,733 (GRCm39) C141Y probably benign Het
Pcdhga8 G A 18: 37,859,954 (GRCm39) V337I probably benign Het
Pelp1 G T 11: 70,286,260 (GRCm39) N572K probably benign Het
Pikfyve T C 1: 65,307,036 (GRCm39) V1808A possibly damaging Het
Pirt A C 11: 66,816,769 (GRCm39) S27R probably damaging Het
Pramel20 A T 4: 143,298,821 (GRCm39) I255L probably benign Het
Rgs17 A T 10: 5,791,488 (GRCm39) D96E probably benign Het
Senp1 A G 15: 97,964,679 (GRCm39) F206L probably benign Het
Sh3rf1 T A 8: 61,825,756 (GRCm39) S584T probably benign Het
Tex44 A T 1: 86,354,459 (GRCm39) K123* probably null Het
Tpst2 C A 5: 112,455,887 (GRCm39) T142K probably damaging Het
Ttc28 G A 5: 111,433,085 (GRCm39) G2040R possibly damaging Het
Uggt2 T A 14: 119,263,905 (GRCm39) I1042F probably damaging Het
Vmn2r91 T C 17: 18,325,693 (GRCm39) S104P probably damaging Het
Wdfy3 T C 5: 102,003,252 (GRCm39) probably null Het
Zeb2 G A 2: 44,892,584 (GRCm39) A223V probably damaging Het
Zfp1002 T C 2: 150,096,520 (GRCm39) D303G probably benign Het
Zfp566 A G 7: 29,777,930 (GRCm39) S84P probably benign Het
Zfp994 T A 17: 22,420,736 (GRCm39) H71L possibly damaging Het
Other mutations in Anxa4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01355:Anxa4 APN 6 86,729,187 (GRCm39) missense probably damaging 1.00
IGL02601:Anxa4 APN 6 86,737,683 (GRCm39) missense probably benign 0.00
R0423:Anxa4 UTSW 6 86,737,719 (GRCm39) missense probably damaging 1.00
R0948:Anxa4 UTSW 6 86,718,913 (GRCm39) missense probably damaging 1.00
R1846:Anxa4 UTSW 6 86,718,893 (GRCm39) splice site probably null
R2341:Anxa4 UTSW 6 86,720,135 (GRCm39) missense probably benign 0.38
R4058:Anxa4 UTSW 6 86,734,800 (GRCm39) critical splice donor site probably null
R5000:Anxa4 UTSW 6 86,742,766 (GRCm39) utr 5 prime probably benign
R5390:Anxa4 UTSW 6 86,730,865 (GRCm39) missense probably damaging 1.00
R6503:Anxa4 UTSW 6 86,721,649 (GRCm39) missense probably damaging 1.00
R6897:Anxa4 UTSW 6 86,720,160 (GRCm39) critical splice acceptor site probably null
R8092:Anxa4 UTSW 6 86,718,873 (GRCm39) missense probably damaging 1.00
R9239:Anxa4 UTSW 6 86,734,812 (GRCm39) missense probably benign
R9352:Anxa4 UTSW 6 86,742,775 (GRCm39) start gained probably benign
R9646:Anxa4 UTSW 6 86,730,814 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAACTGGAGGCGTTTTAATTGG -3'
(R):5'- AGGTGATTCCTATGCTCTTAAGTAC -3'

Sequencing Primer
(F):5'- CTGGAGGCGTTTTAATTGGAAATAAG -3'
(R):5'- CCCTGGAGCTATTATTATGGGCAAC -3'
Posted On 2019-10-24